{
    "disease_id": "DOID:0081079",
    "recommended_name": {
        "id": "DOID:0081079",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081079",
        "name": "ectodermal dysplasia and immunodeficiency 2",
        "description": "An ectodermal dysplasia and immunodeficiency that is characterized by variable features of ectodermal dysplasia (e.g., hypo/anhidrosis, sparse hair, tooth anomalies) and various immunologic and infectious phenotypes of differing severity and that has_material_basis_in heterozygous mutation in the NFKBIA gene on chromosome 14q13."
    },
    "synonyms": [
        {
            "id": "MONDO:0012806",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012806",
            "name": "ectodermal dysplasia and immunodeficiency 2",
            "description": ""
        },
        {
            "id": "MONDO:0012806",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012806",
            "name": "EPAID2",
            "description": ""
        },
        {
            "id": "MONDO:0012806",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012806",
            "name": "ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, autosomal dominant",
            "description": ""
        },
        {
            "id": "MIM:612132",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/612132",
            "name": "Ectodermal dysplasia and immunodeficiency 2",
            "description": "Ectodermal dysplasia and immunodeficiency 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081079"
    ],
    "unlinked_id_list": []
}
